@article{hiatt:hal-04163805,
TITLE = {Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype},
AUTHOR = {Hiatt, Susan and Trajkova, Slavica and Sebastiano, Matteo Rossi and Partridge, E Christopher and Abidi, Fatima and Anderson, Ashlyn and Ansar, Muhammad and Antonarakis, Stylianos and Azadi, Azadeh and Bachmann-Gagescu, Ruxandra and Bartuli, Andrea and Benech, Caroline and Berkowitz, Jennifer and Betti, Michael and Brusco, Alfredo and Cannon, Ashley and Caron, Giulia and Chen, Yanmin and Cochran, Meagan and Coleman, Tanner and Crenshaw, Molly and Cuisset, Laurence and Curry, Cynthia and Darvish, Hossein and Demirdas, Serwet and Descartes, Maria and Douglas, Jessica and Dyment, David and Elloumi, Houda Zghal and Ermondi, Giuseppe and Faoucher, Marie and Farrow, Emily and Felker, Stephanie and Fisher, Heather and Hurst, Anna and Joset, Pascal and Kelly, Melissa and Kmoch, Stanislav and Leadem, Benjamin and Lyons, Michael and Macchiaiolo, Marina and Magner, Martin and Mandrile, Giorgia and Mattioli, Francesca and Mceown, Megan and Meadows, Sarah and Medne, Livija and Meeks, Naomi and Montgomery, Sarah and Napier, Melanie and Natowicz, Marvin and Newberry, Kimberly and Niceta, Marcello and Noskova, Lenka and Nowak, Catherine and Noyes, Amanda and Osmond, Matthew and Prijoles, Eloise and Pugh, Jada and Pullano, Verdiana and Qu{\'e}lin, Chlo{\'e} and Rahimi-Aliabadi, Simin and Rauch, Anita and Redon, Sylvia and Reymond, Alexandre and Schwager, Caitlin and Sellars, Elizabeth and Scheuerle, Angela and Shukarova-Angelovska, Elena and Skraban, Cara and Stolerman, Elliot and Sullivan, Bonnie and Tartaglia, Marco and Thiffault, Isabelle and Uguen, Kevin and Uma{\~n}a, Luis and van Bever, Yolande and van der Crabben, Saskia and van Slegtenhorst, Marjon and Waisfisz, Quinten and Washington, Camerun and Rodan, Lance and Myers, Richard and Cooper, Gregory},
URL = {https://hal.science/hal-04163805},
JOURNAL = {American Journal of Human Genetics},
PUBLISHER = {Elsevier (Cell Press)},
VOLUME = {110},
NUMBER = {2},
PAGES = {215-227},
YEAR = {2023},
MONTH = Feb, DOI = {10.1016/j.ajhg.2022.12.007},
KEYWORDS = {X-linked intellectual disability ; ZMYM3 ; chromatin modifiers ; neurodevelopmental disorder ; transcriptional coregulators},
HAL_ID = {hal-04163805},
HAL_VERSION = {v1},
}
Affichage BibTex